I am a patient. I am an expert on my own health experiences. I am an educator. I am an advocate.
Hemophilia is a rare disease. Being a woman with a disorder thought once to be male-only makes it complicated to navigate. I cannot merely be a patient and expect medical providers assisting me to understand how to treat me. I must be my own expert who deeply understands the nuances involved in my care. I must be an educator, able to disseminate critical information about hemophilia and its treatment quickly and effectively. It’s important to tread lightly when correcting misconceptions about women and hemophilia. A doctor with a bruised ego can make a difficult healthcare partner. I must be an advocate, strongly voicing the specific care plans designed to keep me safe and healthy. While finding my voice is empowering, it’s also exhausting.
Once I help a medical professional understand that women have hemophilia, I then move into treatment plan discussions. Factor VIII replacement products are necessary to treat my hemophilia A when I have bleeding episodes. DDAVP (desmopressin), does not work for me. I am often questioned when I explain that DDAVP does not work for me. Subsequently, I tell the story of DDAVP being used (without factor VIII replacement) for a laparoscopic ovarian cyst removal: Every incision reopened and bled four hours after surgery.
I am asked whether the DDAVP was nose spray or IV form (IV is stronger, and that is what I got). With factor VIII levels in the mild hemophilia range, if DDAVP did work for me, it would temporarily increase my factor VIII levels at a significantly lower cost than replacement factor products. For me, this is wishful thinking. Research backs my claim.
Many mutations equal many manifestations
There was a time when individuals with hemophilia and suspected carriers in their family could be tested through the My Life, Our Future project without cost. The project also determined specific hemophilia mutations (variants). There are many! I learned what my variant was and carefully delved into the depths of DNA internet research. Oh, the places Google will let you go! One of the first things I learned was that my variant is not an Intron 22 or Intron 1 inversion — the slightly more common hemophilia variants. My variant is a missense variant in exon 23.
When I Googled my specific mutation I learned that it was one of three hemophilia variants found in multiple studies to not respond to DDAVP. I was thrilled to have this information to pass along to my Hemophilia Treatment Center (HTC). Scientific proof to not use DDAVP on me. It validated my personal experiences in a language I could use to better self-advocate.
Understanding my diagnosis
The more I work to understand my DNA variant and the more I read research on my specific hemophilia variant, the more I understand my diagnosis. I learned that most people with the variant I have develop mild or moderate hemophilia, but some have severe hemophilia. Severe is rarer with my variant. This is interesting, as my father had severe hemophilia, but my nephew and cousin have moderate hemophilia, and my hemophilia is mild.
Dealing with the disconnect (research vs. family reality)
Diving into DNA can be empowering, but it also can be overwhelming and frightening. For years, I have been tested for inhibitors and have never had them. They do not run in my family, so I have never worried about developing one.
Just recently, I learned that individuals with my variant are much more likely to develop inhibitors. I had to find a way to live with this disconnect, and not in fear. I remind myself that while this variant is prone to inhibitor development, the individuals in my family have never developed them.
A variant prone to inhibitors does not mean the development of an inhibitor will definitely occur, particularly in a family that has never had them. However, understanding the variant emphasizes the importance of my yearly HTC appointments. Also, I am reminded to be diligent with yearly testing to assure an inhibitor has not developed.
Knowledge can arouse more than power
Knowledge equals power but can also create confusion, particularly when interpreting scientific research. It is important to seek to clarify the information you read when researching your variant. It is possible you may know just enough to be dangerous because you think you understand an article, but then you actually misinterpret the findings.
Recently, I contacted my HTC and asked them to help me understand the research on my variant. I encourage others to do the same. Partnering with your healthcare provider to understand your specific hemophilia mutation may help fine-tune your hemophilia treatment plan.
Note: Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Hemophilia News Today or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to hemophilia.